[Eulenburg's paramyotonia: clinical, histological, histochemical, ultrastructural and genetic aspects (presentation of 4 cases)].
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Biomedical subjects
Publications and source records attributed to G Massi.
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The molecular structure and the serum levels of alpha 1-antitrypsin, the major antiprotease of human serum, are controlled by a series of codominant alleles at a single chromosomal locus, known as the Pi(protease-inhibitor) locus. The congenital deficiency of this inhibitor is known to be associated with the development of lung emphysema in early adulthood and chronic liver disease in childhood. Less frequent associations have been reported, such as rheumatoid arthritis, membranoproliferative glomerulonephritis and mosaicism for sex chromosomes. The identification of several suballeles of the Pi system, which was accomplished by means of a refinement of the isoelectric focusing technique, has promoted research concerning their possible pathogenic implications. The studies so far performed have often led to contradictory results, but nevertheless they strongly ascribe the property of controlling the quantitative levels of alpha 1-antitrypsin to certain M subtypes. Intermediate M3 subtype has recently been associated with the development of chronic obstructive lung disease in adulthood. Should this finding be confirmed by further evidence, a new approach to the prevention of lung disease could be considered, given that 30% of the individuals are carriers of the M3 suballele. In Italy, the incidence of congenital deficiency of alpha 1-trypsin appears to be greater in the northern regions, where 15-20 out of every 100,000 individuals are affected by the severe (ZZ) form of the deficiency.
The device invented in 1892 by Murphy is now being used again: as a matter of fact, modern technologies allowed for the development of a pressure bowel-anastomosis system with complete reabsorption, whose mechanical structure resembles Murphy's device. In 1987, in digestive anastomosis, the B.A.R. (Bowel Anastomosis Ring) pressure suturing device was successfully used. In this case report, the authors, on the basis of previous experiences concerning pressure bowel anastomosis with biodegradable material, describe the use of the B.A.R. for the performance of an ileo-rectal sub-peritoneal anastomosis in a patient with rectal neoplasia and previous ileorectostomy. In the authors' opinion, the absence of post-surgery complications and the very good functional outcome that was achieved in such a complex case, from a pathological and surgical point of view, is a further contribution to the validity of such methodology, which is also supported by several studies carried out both in the U.S.A. and in Europe on colic and upper digestive surgery. By overcoming the last hindrance represented by the performance of esophageal anastomosis, it will be possible to consider B.A.R. as a useful and proper method to be generally applied in digestive surgery.